Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC
SourceNeuromuscular Disorders, 27, 1, (2017), pp. 73-77
Article / Letter to editor
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SubjectRadboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience
We report three patients with a predominantly proximal myopathy due to p.A193T mutation in the actin-binding domain of FLNC, which has so far only been associated with a distal myopathy. They presented with a late onset myopathy characterized by predominant limb-girdle and proximal weakness. We describe the clinical, electrophysiological, pathological, muscle imaging and genetic features. One of our patients did not have typical histological features for a myofibrillar myopathy in muscle biopsy. This observation is important for the recognition of the full clinical spectrum of filamin-C-related myopathies. Muscle imaging has an important role in distinguishing the different filamin-C myopathy types.
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